Variant report

Variant	rs13431239
Chromosome Location	chr2:54596684-54596685
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:54588749..54591238-chr2:54595941..54597733,2	K562	blood:
2	chr2:54587660..54591238-chr2:54594163..54597733,4	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10168899	1.00[AMR][1000 genomes]
rs10177706	1.00[AMR][1000 genomes]
rs10182439	1.00[AMR][1000 genomes]
rs10184091	1.00[AMR][1000 genomes]
rs10184388	1.00[AMR][1000 genomes]
rs10190817	1.00[AMR][1000 genomes]
rs10192536	1.00[AMR][1000 genomes]
rs10192849	1.00[AMR][1000 genomes]
rs10193885	1.00[AMR][1000 genomes]
rs10195165	1.00[AMR][1000 genomes]
rs10195657	1.00[AMR][1000 genomes]
rs10196054	1.00[AMR][1000 genomes]
rs10206181	1.00[AMR][1000 genomes]
rs10206939	1.00[AMR][1000 genomes]
rs10207434	1.00[AMR][1000 genomes]
rs10207830	1.00[AMR][1000 genomes]
rs10209379	1.00[AMR][1000 genomes]
rs10210249	1.00[AMR][1000 genomes]
rs11125530	1.00[AMR][1000 genomes]
rs13386127	1.00[AMR][1000 genomes]
rs13386211	1.00[AMR][1000 genomes]
rs13389240	1.00[AMR][1000 genomes]
rs13390991	1.00[AMR][1000 genomes]
rs13392879	1.00[AMR][1000 genomes]
rs13393792	1.00[AMR][1000 genomes]
rs13396310	1.00[AMR][1000 genomes]
rs13396318	1.00[AMR][1000 genomes]
rs13404835	1.00[AMR][1000 genomes]
rs13407955	1.00[AMR][1000 genomes]
rs13410757	1.00[AMR][1000 genomes]
rs13411424	1.00[AMR][1000 genomes]
rs13411458	1.00[AMR][1000 genomes]
rs13415033	1.00[AMR][1000 genomes]
rs13415558	1.00[AMR][1000 genomes]
rs13419158	1.00[AMR][1000 genomes]
rs13423383	1.00[AMR][1000 genomes]
rs13423617	1.00[AMR][1000 genomes]
rs13425423	1.00[AMR][1000 genomes]
rs28607569	1.00[AMR][1000 genomes]
rs28698214	1.00[AMR][1000 genomes]
rs9808395	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003205	chr2:54220049-54700843	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv2762639	chr2:54220049-54700855	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1011790	chr2:54220049-54714553	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1002891	chr2:54227005-54682169	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv535722	chr2:54227005-54682169	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv1011690	chr2:54255361-54700843	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv532512	chr2:54453210-54630755	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv3444221	chr2:54594048-54598146	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54587600-54606200	Weak transcription	Fetal Kidney	kidney
2	chr2:54594600-54598400	Weak transcription	Pancreas	Pancrea
3	chr2:54595800-54596800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:54595800-54597400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:54596000-54597200	Weak transcription	Adipose Nuclei	Adipose
6	chr2:54596000-54597800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:54596000-54597800	Weak transcription	Left Ventricle	heart
8	chr2:54596000-54597800	Enhancers	HSMMtube	muscle
9	chr2:54596200-54598000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr2:54596400-54597800	Weak transcription	Aorta	Aorta

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